Assessing the Impact of Novel <i>BRCA1</i> Exon 11 Variants on Pre-mRNA Splicing

Our study focused on assessing the effects of three newly identified BRCA1 exon 11 variants (c.1019T>C, c.2363T>G, and c.3192T>C) on breast cancer susceptibility. Using computational predictions and experimental splicing assays, we evaluated their potential as pathogenic mutations. Our in silico ana...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Halla Elshwekh, Inas M. Alhudiri, Adam Elzagheid, Nabil Enattah, Yasmine Abbassi, Lubna Abou Assali, Ilenia Marino, Cristiana Stuani, Emanuele Buratti, Maurizio Romano
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	MDPI AG 2024-05-01
Σειρά:	Cells
Θέματα:	<i>BRCA1</i> exon 11 breast cancer germline mutations splicing loss of heterozygosity
Διαθέσιμο Online:	https://www.mdpi.com/2073-4409/13/10/824
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